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Expanding the clinical picture of the MECP2 Duplication syndrome

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.

Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis

Infant, maternal and demographic predictors of delayed vaccination: A population-based cohort study

Receiving vaccines at or close to their due date (vaccination timeliness) is a now key measure of program performance. However, studies comprehensively examining predictors of delayed infant vaccination are lacking. We aimed to identify predictors of short and longer-term delays in diphtheria-tetanus-pertussis (DTP) vaccination by dose number and ethnicity.

Free screen time resources for parents

We’ve linked some helpful resources to assist you in your journey to healthy screen time habits in and outside of your household.

Does adjunctive clindamycin have a role in Staphylococcus aureus bacteremia? A protocol for the adjunctive treatment domain of the S. aureus Network Adaptive Platform (SNAP) randomized controlled trial

The use of adjunctive antibiotics directed against exotoxin production in Staphylococcus aureus bacteremia (SAB) is widespread, and is recommended in many guidelines, but there is limited evidence underpinning this.

Pertussis burden and acellular pertussis vaccine effectiveness in high risk children

Pertussis hospitalisation is more common among infants born prematurely, who have significant comorbidities, or are Indigenous, but acellular pertussis (aP) vaccine effectiveness (VE) estimates in these sub-groups are lacking. We measured aP VE by Indigenous status, and policy-relevant categories of prematurity and comorbidity, in a population-based Australian cohort.

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Community participation for girls and women living with Rett syndrome

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.

Cohort profile: A population-based record linkage platform to address critical epidemiological evidence gaps in respiratory syncytial virus and other respiratory infections

The Western Australia (WA) Respiratory Infections Linked Data Platform is a population-based cohort established to investigate the epidemiology of RSV and other respiratory infections in children aged 0-10 years, incorporating microbiological testing patterns, hospital admissions, emergency department presentations, and socio-demographic data.

Active Case Finding for Rheumatic Fever in an Endemic Country

Asha Jonathan Bowen Carapetis AM BA MBBS DCH FRACP PhD GAICD FAHMS OAM AM MBBS FRACP FAFPHM PhD FAHMS Head, Healthy Skin and ARF Prevention Executive